Motor Function and Activity of Daily Life in Spinal Muscular Atrophy

Translation of Motor Function to Daily Activity Performance in Individuals With SMA

This study will incorporate patients/ caregivers' perspectives to investigate the performance in daily activities of individuals with SMA and how it relates to their motor function abilities.

Study Overview

• Status: Not yet recruiting
• Conditions: Spinal Muscular Atrophy

Detailed Description

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that causes progressive muscle weakness and atrophy and eventually leads to loss of function. Despite recent advances in disease-modifying treatments, SMA can still significantly impact an individual's functioning in daily living and quality of life. This study will incorporate patients/ caregivers' perspectives to investigate the performance in daily activities of individuals with SMA and how it relates to their motor function abilities.

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Hsi-Wen Huang, MSc; Phone Number: 270409 886-2-23123456; Email: lovelyeva39@gmail.com
• Study Contact Backup: Name: Fang-Yi Huang, MSc; Phone Number: 270409 886-2-23123456; Email: eyy13579@hotmail.com

Study Locations

• Taiwan
  • Taipei, Taiwan, 100
    • National Taiwan University Hospital
    • Contact: Hsi-Wen Huang, MSc; Phone Number: 270409 886-2-23123456; Email: lovelyeva39@gmail.com

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that causes progressive muscle weakness and atrophy and eventually leads to loss of function.

Description

Inclusion Criteria:

• Having a diagnosis of SMA with genetics confirmed as 5q SMA.
• Above 3 years of age (capable of performing motor assessments).

Exclusion Criteria:

• Having severe respiratory and other medical conditions precluding safe participation in standardized motor function tests.
• Having any orthopedic surgery during the past 6 months.
• Women who are pregnant.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Revised Upper Limb Module	The physiotherapist will perform a serious of motor test to evaluate the patient's upper limb motor function. This test is to observe the manual ability on different tasks in sitting position, including drawing along the path, opening Ziploc container, or lifting weight. And the therapist will score for each item. The Revised Upper Limb Module (RULM) are consist of 19 items. It takes about 15-20 minutes for testing.	15-20 minutes

Collaborators and Investigators

• Sponsor: National Taiwan University Hospital
• Investigators: Principal Investigator: Hsi-Wen Huang, MSc, National Taiwan University Hospital

Study record dates

Study Major Dates

• Study Start (Estimated): June 30, 2023
• Primary Completion (Estimated): June 30, 2024
• Study Completion (Estimated): December 31, 2024

Study Registration Dates

• First Submitted: June 26, 2023
• First Submitted That Met QC Criteria: June 26, 2023
• First Posted (Actual): July 5, 2023

Study Record Updates

• Last Update Posted (Actual): July 7, 2023
• Last Update Submitted That Met QC Criteria: July 5, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Neuromuscular Diseases; Neurodegenerative Diseases; Neuromuscular Manifestations; Pathological Conditions, Anatomical; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy; Atrophy; Muscular Atrophy, Spinal
• Other Study ID Numbers: 202305039RINB

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No